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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 4-6054144-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=6054144&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 6054144,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001099433.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.Tyr571Cys",
"transcript": "NM_001099433.2",
"protein_id": "NP_001092903.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 831,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 2969,
"mane_select": "ENST00000409021.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099433.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.Tyr571Cys",
"transcript": "ENST00000409021.9",
"protein_id": "ENSP00000386711.3",
"transcript_support_level": 1,
"aa_start": 571,
"aa_end": null,
"aa_length": 831,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 2969,
"mane_select": "NM_001099433.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409021.9"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "c.1157A>G",
"hgvs_p": "p.Tyr386Cys",
"transcript": "ENST00000409371.8",
"protein_id": "ENSP00000387042.3",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 646,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409371.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.Tyr571Cys",
"transcript": "ENST00000282924.9",
"protein_id": "ENSP00000282924.5",
"transcript_support_level": 1,
"aa_start": 571,
"aa_end": null,
"aa_length": 626,
"cds_start": 1712,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 2198,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282924.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "n.*58A>G",
"hgvs_p": null,
"transcript": "ENST00000473053.5",
"protein_id": "ENSP00000422004.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000473053.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "n.*58A>G",
"hgvs_p": null,
"transcript": "ENST00000473053.5",
"protein_id": "ENSP00000422004.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000473053.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4orf50",
"gene_hgnc_id": 33766,
"hgvs_c": "c.-3235A>G",
"hgvs_p": null,
"transcript": "ENST00000531445.3",
"protein_id": "ENSP00000437121.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1508,
"cds_start": null,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531445.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.Tyr571Cys",
"transcript": "NM_001306133.2",
"protein_id": "NP_001293062.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 626,
"cds_start": 1712,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1988,
"cdna_end": null,
"cdna_length": 2377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306133.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.Tyr571Cys",
"transcript": "NM_144720.4",
"protein_id": "NP_653321.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 626,
"cds_start": 1712,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144720.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.Tyr571Cys",
"transcript": "ENST00000409831.5",
"protein_id": "ENSP00000386925.1",
"transcript_support_level": 2,
"aa_start": 571,
"aa_end": null,
"aa_length": 626,
"cds_start": 1712,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1986,
"cdna_end": null,
"cdna_length": 2371,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409831.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "c.1709A>G",
"hgvs_p": "p.Tyr570Cys",
"transcript": "ENST00000700570.1",
"protein_id": "ENSP00000515068.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 625,
"cds_start": 1709,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 2129,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700570.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "c.1673A>G",
"hgvs_p": "p.Tyr558Cys",
"transcript": "ENST00000700569.1",
"protein_id": "ENSP00000515067.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 613,
"cds_start": 1673,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1901,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700569.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "c.1673A>G",
"hgvs_p": "p.Tyr558Cys",
"transcript": "ENST00000700573.1",
"protein_id": "ENSP00000515071.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 613,
"cds_start": 1673,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700573.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "c.1652A>G",
"hgvs_p": "p.Tyr551Cys",
"transcript": "ENST00000700572.1",
"protein_id": "ENSP00000515070.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 606,
"cds_start": 1652,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 2072,
"cdna_end": null,
"cdna_length": 2442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700572.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Tyr528Cys",
"transcript": "ENST00000700571.1",
"protein_id": "ENSP00000515069.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 583,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 2003,
"cdna_end": null,
"cdna_length": 2373,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700571.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "c.1217A>G",
"hgvs_p": "p.Tyr406Cys",
"transcript": "NM_001306134.2",
"protein_id": "NP_001293063.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 461,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306134.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "c.1217A>G",
"hgvs_p": "p.Tyr406Cys",
"transcript": "ENST00000410077.2",
"protein_id": "ENSP00000386745.2",
"transcript_support_level": 2,
"aa_start": 406,
"aa_end": null,
"aa_length": 461,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 1835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410077.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "c.416A>G",
"hgvs_p": "p.Tyr139Cys",
"transcript": "ENST00000637373.2",
"protein_id": "ENSP00000490067.1",
"transcript_support_level": 5,
"aa_start": 139,
"aa_end": null,
"aa_length": 399,
"cds_start": 416,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 1358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637373.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4orf50",
"gene_hgnc_id": 33766,
"hgvs_c": "c.-3235A>G",
"hgvs_p": null,
"transcript": "ENST00000531445.3",
"protein_id": "ENSP00000437121.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1508,
"cds_start": null,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531445.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "c.1708-4A>G",
"hgvs_p": null,
"transcript": "ENST00000700575.1",
"protein_id": "ENSP00000515072.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 579,
"cds_start": null,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700575.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "n.1973A>G",
"hgvs_p": null,
"transcript": "ENST00000700566.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000700566.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "n.1346A>G",
"hgvs_p": null,
"transcript": "ENST00000700567.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000700567.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "n.1792A>G",
"hgvs_p": null,
"transcript": "ENST00000700568.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000700568.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "n.4591A>G",
"hgvs_p": null,
"transcript": "ENST00000700574.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4961,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000700574.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "n.5872A>G",
"hgvs_p": null,
"transcript": "ENST00000700576.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6219,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000700576.1"
}
],
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"dbsnp": "rs1336902861",
"frequency_reference_population": 0.0000024783055,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 6.84078e-7,
"gnomad_genomes_af": 0.000019713,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09946033358573914,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.039,
"revel_prediction": "Benign",
"alphamissense_score": 0.0749,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.615,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001099433.2",
"gene_symbol": "JAKMIP1",
"hgnc_id": 26460,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.Tyr571Cys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000531445.3",
"gene_symbol": "C4orf50",
"hgnc_id": 33766,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-3235A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}